Zobrazeno 1 - 10
of 51
pro vyhledávání: '"Anne, Koy"'
Autor:
Jana Domínguez Carral, Carola Reinhard, Darius Ebrahimi-Fakhari, Nathalie Dorison, Serena Galosi, Giacomo Garone, Masa Malenica, Claudia Ravelli, Esra Serdaroglu, Laura A. van de Pol, Anne Koy, Vincenzo Leuzzi, Agathe Roubertie, Jean-Pierre Lin, Diane Doummar, Laura Cif, Juan Darío Ortigoza-Escobar
Publikováno v:
Frontiers in Neurology, Vol 15 (2024)
BackgroundGNAO1-related disorders (GNAO1-RD) encompass a diverse spectrum of neurodevelopmental and movement disorders arising from variants in the GNAO1 gene. Dyskinetic crises, marked by sudden and intense exacerbations of abnormal involuntary move
Externí odkaz:
https://doaj.org/article/b868ccdbbf144a0ebf6daa05480378e6
Autor:
Ricardo Loução, Julia Burkhardt, Jochen Wirths, Christoph Kabbasch, Till A. Dembek, Petra Heiden, Sebahattin Cirak, Bassam Al-Fatly, Harald Treuer, Veerle Visser-Vandewalle, Mauritius Hoevels, Anne Koy
Publikováno v:
NeuroImage, Vol 287, Iss , Pp 120507- (2024)
Background: Childhood-onset dystonia is often progressive and severely impairs a child´s life. The pathophysiology is very heterogeneous and treatment responses vary in patients with dystonia. Factors influencing treatment effects remain to be eluci
Externí odkaz:
https://doaj.org/article/c09601bef2394311842053454b203ea1
Autor:
Bassam Al-Fatly, Sabina J. Giesler, Simon Oxenford, Ningfei Li, Till A. Dembek, Johannes Achtzehn, Patricia Krause, Veerle Visser-Vandewalle, Joachim K. Krauss, Joachim Runge, Vera Tadic, Tobias Bäumer, Alfons Schnitzler, Jan Vesper, Jochen Wirths, Lars Timmermann, Andrea A. Kühn, Anne Koy
Publikováno v:
NeuroImage: Clinical, Vol 39, Iss , Pp 103449- (2023)
Introduction: Deep brain stimulation (DBS) is an established treatment in patients of various ages with pharmaco-resistant neurological disorders. Surgical targeting and postoperative programming of DBS depend on the spatial location of the stimulati
Externí odkaz:
https://doaj.org/article/36caedc18a124845a6c37936a4ae2ddb
Autor:
Lea Hentrich, Mered Parnes, Timothy Edward Lotze, Rohini Coorg, Tom J. de Koning, Kha M. Nguyen, Calvin K. Yip, Heinz Jungbluth, Anne Koy, Hormos Salimi Dafsari
Publikováno v:
Genes, Vol 14, Iss 10, p 1860 (2023)
Biallelic variants in the Golgi SNAP receptor complex member 2 gene (GOSR2) have been reported in progressive myoclonus epilepsy with neurodegeneration. Typical clinical features include ataxia and areflexia during early childhood, followed by seizur
Externí odkaz:
https://doaj.org/article/7fefefdd4f0445e3ad51902ba10fa75b
Autor:
Liesanne M. Centen, David Pinter, Martje E. van Egmond, Holm Graessner, Norbert Kovacs, Anne Koy, Belen Perez-Dueñas, Carola Reinhard, Marina A. J. Tijssen, Sylvia Boesch
Publikováno v:
Journal of Neurology. SPRINGER HEIDELBERG
Background Since the first European-wide evaluation of dystonia management in 2016, several efforts have been made to improve dystonia-care. One of these was the development of the Dystonia Disease Group as a part of the European Reference Network fo
Autor:
Moritz Thiel, Daniel Bamborschke, Wibke G. Janzarik, Birgit Assmann, Simone Zittel, Steffi Patzer, Andrea Auhuber, Joachim Opp, Eva Matzker, Andrea Bevot, Juergen Seeger, Andreas van Baalen, Burkhard Stüve, Knut Brockmann, Sebahattin Cirak, Anne Koy
Publikováno v:
Journal of Neurology, Neurosurgery & Psychiatry. :jnnp-2022
BackgroundPatients carrying pathogenic variants inGNAO1often present with early-onset central hypotonia and global developmental delay, with or without epilepsy. As the disorder progresses, a complex hypertonic and hyperkinetic movement disorder is a
Autor:
Min Ae Lee-Kirsch, Nadja Lucas, Mona Kreutzer, Sebahattin Cirak, Anne Koy, Friederike Koerber, Daniel Bamborschke, Christoph Huenseler, Peter Herkenrath
Publikováno v:
Brain and Development. 43:320-324
Background Aicardi-Goutieres syndrome (AGS) is a clinically and genetically heterogenous autoinflammatory disorder caused by constitutive activation of the type I interferon axis. It has been associated with the genes TREX1, RNASEH2A, RNASEH2B, RNASE
Autor:
Hülya-Sevcan Daimagüler, Max C. Liebau, Daniel Bender, Joshua B. Kohl, Guenter Schwarz, Anne Koy, Jose Angel Santamaria-Araujo, Titus Gehling, Alexander T. Kaczmarek, Sebahattin Cirak
Publikováno v:
Journal of inherited metabolic diseaseREFERENCES. 45(2)
Isolated sulfite oxidase deficiency (ISOD) is a rare recessive and infantile lethal metabolic disorder, which is caused by functional loss of sulfite oxidase (SO) due to mutations of the SUOX gene. SO is a mitochondrially localized molybdenum cofacto
The phenotypic spectrum of PCDH12 associated disorders - five new cases and review of the literature
Autor:
Sheng Chih Jin, Andreas Hahn, Sajad Shafiee, Kirsten Kolzter, Friederike Körber, Anja Weik, Michael C. Kruer, Sebahattin Cirak, Hossein Darvish, Min Ae Lee-Kirsch, Walid Fazeli, Daniel Bamborschke, Anne Koy, Abbas Tafakhori, Abubakar Moawia, Matthias Giersdorf, Somayeh Bakhtiari
Publikováno v:
Eur J Paediatr Neurol
PCDH12 is a member of the non-clustered protocadherin family of calcium-dependent cell adhesion proteins, which are involved in the regulation of brain development and endothelial adhesion. To date, only 15 families have been reported with PCDH12 ass
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::752f1f7af2eb578f753989c24cce2e27
https://europepmc.org/articles/PMC9939053/
https://europepmc.org/articles/PMC9939053/
Autor:
Kirsten Kolzter, Michael C. Kruer, Daniel Bamborschke, Sebahattin Cirak, Abbas Tafakhori, Anne Koy, Abubakar Moawia, Sheng Chih Jin, Friederike Körber, Andreas Hahn, Hossein Darvish, Min Ae Lee-Kirsch, Walid Fazeli, Matthias Giersdorf, Somayeh Bakhtiari, Sajad Shafiee
Publikováno v:
Abstracts of the 46th Annual Meeting of the Society for Neuropediatrics.